This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene.
Alternative names and synonyms associated with ALDH5A1
aldehyde dehydrogenase 5 family member A1 (ALDH5A1) ELISA Kit
aldehyde dehydrogenase 5 family member A1 (aldh5a1) ELISA Kit
aldehyde dehydrogenase 5 family, member A1 (Aldh5a1) ELISA Kit
aldhehyde dehydrogenase family 5, subfamily A1 (Aldh5a1) ELISA Kit